Joubert syndrome 6

Joubert syndrome 6 is a rare inherited condition that is part of the Joubert syndrome family of disorders. This condition is caused by mutations in the TMEM67 gene. People with Joubert syndrome 6 may experience characteristics common to Joubert syndrome, which can involve differences in brain development and function. Because this syndrome is linked to a specific genetic mutation, understanding its genetic basis can be key to studying how it develops. The information provided is based on established genetic data and demonstrated associations with the TMEM67 gene, as documented in trusted sources.

Information about symptoms is currently limited for this condition.

Joubert syndrome 6 is primarily caused by a mutation in the TMEM67 gene. This mutation disrupts the normal development and function of various parts of the body, including the brain. Being an inherited condition, the genetic change is passed down from the parents.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.